2. Academic Validation
  3. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

  • Nat Genet. 2003 May;34(1):27-9. doi: 10.1038/ng1136.
Stéphane Jamain 1,  Hélène Quach,  Catalina Betancur,  Maria Råstam,  Catherine Colineaux,  I Carina Gillberg,  Henrik Soderstrom,  Bruno Giros,  Marion Leboyer,  Christopher Gillberg,  Thomas Bourgeron,  Paris Autism Research International Sibpair Study
Affiliations

Affiliation

  • 1 Laboratoire de Génétique Humaine et Fonctions Cognitives, Université Paris 7, Institut National de la Santé et la Recherche Médicale E0021, 75015 Paris, France.
PMID: 12669065 DOI: 10.1038/ng1136
Abstract

Many studies have supported a genetic etiology for autism. Here we report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders. These mutations affect cell-adhesion molecules localized at the synapse and suggest that a defect of synaptogenesis may predispose to autism.

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